ClinVar Miner

Submissions for variant NM_032730.5(RTN4IP1):c.806+1G>A

gnomAD frequency: 0.00001  dbSNP: rs772984484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001293459 SCV003807237 pathogenic Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 2022-10-29 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 supporting, PM3 supporting
OMIM RCV001293459 SCV001482028 pathogenic Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 2022-05-05 no assertion criteria provided literature only

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